ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.800A>G (p.Lys267Arg)

gnomAD frequency: 0.00080  dbSNP: rs140181991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533908 SCV000645069 benign Koolen-de Vries syndrome 2022-09-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422086 SCV004140745 benign not provided 2022-06-01 criteria provided, single submitter clinical testing KANSL1: BS1, BS2

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